Table 3. .
Gene Name and SNP or Deletion | Gene/SNP Designation | Allele Frequencya (%) |
Functional Effects of Variantsb |
Aryl hydrocarbon receptor: | |||
G1721A | AHR_snp1 | 7 | Higher inducibility for CYP1A1 |
A→G | AHR_snp2 | 31 | Unknown |
Cytochrome P450 1A1: | |||
T3801C | CYP1A1c | 7 | Stabler mRNA, higher activity |
Cytochrome P450 1A2: | |||
−164C→A in intron 1 | CYP1A2c | 32 | Lower activity |
Cytochrome P450 1B1: | |||
Val432Leu | CYP1B1_snp1 | 49 | Lower activity |
Asn453Ser | CYP1B1_snp2 | 15 | Unknown |
Cytochrome P450 2E1: | |||
G→A | CYP2E1 | 21 | Unknown |
Microsomal epoxide hydrolase: | |||
Y113H | EPHX1_snp1c | 32 | Higher activity |
His139Arg | EPHX1_snp2 | 22 | Higher activity |
Glutathione transferases alpha-4: | |||
G→C | GSTA4_snp1 | 41 | Unknown |
T→C | GSTA4_snp2 | 27 | Unknown |
Glutathione transferases mu-1: | |||
Null deletion | GSTM1_nullc | 56 | Loss of function |
C→G | GSTM1_snp1 | 37 | Unknown |
Glutathione transferases mu-3: | |||
G→A | GSTM3 | 37 | Unknown |
Glutathione transferases pi-1: | |||
A313G | GSTP1_snp1c | 38 | Lower activity |
C341T | GSTP1_snp2 | 10 | Unknown |
G→T | GSTP1_snp3 | 46 | Unknown |
Glutathione transferases theta-1: | |||
Null deletion | GSTT1_nullc | 18 | Loss of function |
Hypoxia-induced factor-1 alpha subunit: | |||
A→C | HIF1A | 25 | Unknown |
N-acetyltransferases (NATs) 2: | |||
C481T | NAT2_snp1c | 41 | Unknown |
G590A | NAT2_snp2c | 33 | Lower activity |
NAD(P)H: quinone oxidoreductase: | |||
C609 T | NQO1c | 17 | Loss of function |
Sulfotransferases 1A1: | |||
R213H | SULT1A1 | 38 | Lower activity |
UDP-glucuronosyltransferases 1A7: | |||
T387G, C391A, and G392A | UGT1A7_snp1 | 63 | Unknown |
T662C | UGT1A7_snp2 | 36 | Unknown |
Note.— The SNP designations are used in other tables as references to markers.
Allele frequencies were based on Iowan control samples.
Change in enzymatic activities of the variant allele (the second allele listed in SNP column).
Only these markers were genotyped on the DBS samples.